Canonical Allele Identifier: CA70054790

Gene: VHL

Linked Data

• dbSNP Id: rs1057459387
• gnomAD v2: 3-10194548-C-T
• gnomAD v3: 3-10152864-C-T
• gnomAD v4: 3-10152864-C-T
• MyVariant Identifiers: chr3:g.10194548C>T (hg19) ; chr3:g.10152864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152864C>T , CM000665.2:g.10152864C>T	GRCh38
NC_000003.11:g.10194548C>T , CM000665.1:g.10194548C>T	GRCh37
NC_000003.10:g.10169548C>T	NCBI36
NG_008212.3:g.16230C>T , LRG_322:g.16230C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*2899C>T	ENSP00000512444.1:n.*2899C>T
ENST00000256474.3:c.*2899C>T MANE Select	ENSP00000256474.3:n.*2899C>T
NM_000551.3:c.*2899C>T , LRG_322t1:c.*2899C>T	NP_000542.1:n.*2899C>T
NM_198156.2:c.*2899C>T	NP_937799.1:n.*2899C>T
NM_001354723.1:c.*3095C>T	NP_001341652.1:n.*3095C>T
NM_000551.4:c.*2899C>T MANE Select	NP_000542.1:n.*2899C>T
NM_001354723.2:c.*3095C>T	NP_001341652.1:n.*3095C>T
NM_198156.3:c.*2899C>T	NP_937799.1:n.*2899C>T